Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by the widespread intra-alveolar accumulation of minute calculi called microliths. It is caused by mutation of the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells. The present study explores the epidemiological, familial, genetic, clinical, diagnostic, radiological and therapeutic aspects with the aim of contributing to a better understanding of this uncommon disease.We searched articles on PAM published up to December 2014 and 544 papers were found, accounting for 1022 cases.PAM is present in all continents and in many nations, in particular in Turkey, China, Japan, India, Italy and the USA. Familiality is frequent. The clinical course is not uniform and the causes of this clinical variability seem to be largely nongenetic. The optimal diagnostic procedure is the association of chest high-resolution computed tomography (HRCT) with bronchoalveolar lavage, but a chest radiograph may suffice in families in which a case has already been diagnosed. Moreover, chest radiography and HRCT allow the classification of the evolutionary phase of the disease and its severity. At present lung transplantation is the only effective therapy. However, better knowledge of the gene responsible offers hope for new therapies. @ERSpublications Familial, genetic, clinical, radiological and therapeutic aspects of pulmonary alveolar microlithiasis epidemiology http://ow.ly/St3Mw

Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic disease with unknown etiology and pathogenesis. The present work updates the world literature on PAM up to the end of 2001 by means of a full review, including minor reports in local languages (not English). Excluding secondary cases, a total of 424 cases have been reported worldwide, 269 of which were sporadic and showed a prevalence of the male sex and 155 of which were familial cases and prevalently affected the female sex. The highest number of cases has been reported in Europe, followed by Asia, especially Asia Minor, while the single nations with the greatest number of reported cases are Turkey, then Italy and the USA. The salient clinical features of PAM as described in the literature are analyzed: family history, clinical course, association with other diseases, presence of calcification in other organs. In the first cases, reported in the 60s and 70s, diagnosis was primarily made at autopsy, whereas nowadays diagnostic investigation is made above all by transbronchial biopsy and bronchoalveolar lavage. Radiological imaging is sufficient in cases where other family members are known to be affected, diagnosed by means of invasive techniques. There is no known treatment to date, while lung transplantation is performed in the severest cases. A better knowledge of the epidemiological characteristics of this rare disease could help to diagnose a larger number of cases and to gain insight into its etiology and pathogenesis, which are still unknown.

Pulmonary alveolar microlithiasis (PAM) (MIM 265100) is a rare, autosomal recessive pneumopathy characterized by intra-alveolar formation and accumulation of tiny, roundish corpuscles called "microliths". The name "alveolar microlithiasis" was first used by Puhr in 1933; since then, several reports have appeared, and over 300 individuals with this condition have been reported. We have reviewed the PAM cases in the literature in light of personal experience, focusing on medical implications, disease diagnosis and progression over time, familial predisposition, and geographical and sex distribution. This study confirms autosomal recessive inheritance and does not support the role of other, non-genetic, factors in the pathogenesis of PAM.

BackgroundAn association between systemic corticosteroids and tuberculosis (TB) is reported in the literature. Here within, we conducted a systematic review and meta-analysis to evaluate the effects of inhaled corticosteroids (ICS) on the risk of TB in patients with obstructive lung diseases.MethodsThe review was registered on PROSPERO (CRD42018095874). PubMed, CENTRAL, Scopus and Web of Science were searched from inception to September 2018. Papers reporting cases of incident TB in patients with obstructive lung diseases were included; studies without data on ICS use were excluded. Simultaneous use of oral corticosteroids (OCS) and population attributable fraction (PAF) for TB from ICS exposure were also assessed. Data were analyzed using a generic inverse variance method with a random-effects model. ORs with 95% CI were estimated.ResultsOut of 4044 retrieved papers, 9 articles evaluating adult patients only were included in the review. 36,351 patients were prescribed ICS, while 147,171 were not. Any ICS use was associated with an increased risk of TB versus no ICS use (OR=1.46; 95% CI 1.06 to 2.01; p=0.02; I2=96%). A similar result was also found for current ICS use versus prior/no ICS use, as well as for high, moderate and low ICS dose versus no ICS. When simultaneous OCS use was evaluated, the independent contribution of ICS was confirmed only in patients not on OCS (OR=1.63; 95% CI 1.05 to 2.52; p=0.03; I2=94%). Only 0.49% of all TB cases could be attributable to ICS exposure.ConclusionsDespite the association between ICS and TB, the contribution of this risk factor to the epidemiology of TB seems to be limited. As a consequence, no population-based interventions are warranted. Rather, this risk should be taken into account on an individual basis, particularly in those patients with a high risk of progression from LTBI to TB.

Pulmonary nocardiosis (PN) is a rare but severe disease caused by Nocardia spp. Despite the traditional description as opportunistic infection, case reports and case series of pulmonary nocardiosis have recently been reported in immunocompetent patients too, in particular among people with chronic pulmonary diseases such as advanced Chronic Obstructive Pulmonary Disease (COPD).PN is characterized by non-specific symptoms and radiological findings; bacteriological culture can be difficult. For the reasons above, diagnosis of PN is challenging, sometimes resulting in a misdiagnosis of tuberculosis.We report an interesting case of PN in a 75-year-old male with COPD. He complained a 3-months history of fatigue, evening rise in body temperature, night sweats, unexplained weight loss of 5 kg, worsening dyspnea, cough and mucopurulent sputum. The chest X-ray showed multiple nodules with cavitations bilaterally in the apical and subclavian regions. Nocardia cyriacigeorgica with 100% identity was identified in three sputum samples.Since the patient has never undergone a systemic and/or inhaled steroid therapy, and has no respiratory failure and comorbidities entailing immunodepression, it is conceivable that, in this immunocompetent patient, the COPD could represent an isolated risk factor for PN.Risk factors, clinical presentations, radiographic findings, differential diagnosis and review of the literature of PN cases in COPD, pointing out the similarities and differences, are also described.

An anomalous spirometric pattern can initiate a diagnostic path leading to the finding of a congenital vascular malformation. The flow-volume curve may hide a nonrespiratory pathology. Spirometry is not just asthma or COPD. http://bit.ly/30iHRCp Case reportA 37-year-old woman, who is a mother of a 5-yearold girl, presented to our outpatient pulmonary clinic because of cough and yellowish expectorate for 20 days. She was a former smoker of 10 cigarettes a day for 20 years (10 pack-years) and worked as agricultural day labourer. Since the age of 25 years, the patient reported one or two episodes of lower respiratory tract infection (LTRI) during the winter months that resolved within a few days of antibiotic and mucolytic treatment. The persistence of cough and expectorate of the last LTRI let the general practitioner to seek a respiratory specialist respiratory consultation with spirometry.She denied exertional dyspnoea and other symptoms. Moreover, skin prick tests for airborne allergens were moderately positive for Dermatophagoides pteronyssinus and Dermatophagoides farinae mites, but there was no history of rhinitis and of any other disease.The physical examination of the chest was within normal limits, with no additional respiratory or cardiac sounds. Oxygen saturation by pulse oximetry was 96% on room air, blood pressure 120/80 mmHg and heart rate 65 beats per min with a regular rhythm.Slow and forced ventilatory manoeuvres were executed without difficulty and with the patient's full cooperation, despite her cough (figure 1).

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